Open AccessHomozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations
Author(s) -
MarieHélène GannagéYared,
Jürgen Klammt,
Éliane Chouery,
Sandra Corbani,
Hala Mégarbané,
Joelle Abou Ghoch,
Nancy Choucair,
Roland Pfäffle,
André Mégarbané
Publication year - 2012
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-12-0701
Subject(s) - endocrinology , medicine , insulin like growth factor 1 receptor , short stature , exon , mutation , compound heterozygosity , insulin resistance , heterozygote advantage , gene mutation , biology , gene , receptor , insulin , genetics , allele , growth factor
Heterozygous mutations in the IGF1 receptor (IGF1R) gene lead to partial resistance to IGF1 and contribute to intrauterine growth retardation (IUGR) with postnatal growth failure. To date, homozygous mutations of this receptor have not been described.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom